TEMPI syndrome is an orphan disease where the patients share five characteristics from which the acronym is derived: telangiectasias, elevated erythropoietin and erythrocytosis, monoclonal gammopathy, perinephric fluid collection, and intrapulmonary shunting.
| TEMPI syndrome | |
|---|---|
| Other names | Telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome |
Signs and symptoms
edit| TEMPI | Symptom |
|---|---|
| T | Telangiectasias |
| E | Elevated erythropoietin and erythrocytosis |
| M | Monoclonal gammopathy |
| P | Perinephric fluid collections |
| I | Intrapulmonary shunting |
The patients were all diagnosed at middle age. A monoclonal gammopathy was implicated in all patients tested.[1]
Cause
editThe cause of the syndrome is unknown. Abnormal plasma-cell clone and monoclonal gammopathy are suggested to be triggers of the disease.[2]
Diagnosis
editThe diagnosis is based on the five characteristics described above.[2]
Treatment
editComplete and partial disappearance of the symptoms of the TEMPI syndrome was reported with the drugs bortezomib,[3] daratumumab[4] and autologous stem cell transplantation.[5]
History
editIn 2010, the case of a man with unexplained erythrocytosis and perinephric fluid collection as main features was described in the Case Records of the Massachusetts General Hospital.[6]
References
edit- ^ Sykes, David B.; Schroyens, Wilfried; O'Connell, Casey (2011). "TEMPI Syndrome – A Novel Multisystem Disease". N Engl J Med. 365 (5): 475–477. doi:10.1056/NEJMc1106670. PMID 21812700. S2CID 35990145.
- ^ a b Sykes, David B.; O'Connell, Casey; Schroyens, Wilfried (2020-04-09). "The TEMPI syndrome". Blood. 135 (15): 1199–1203. doi:10.1182/blood.2019004216. ISSN 1528-0020. PMID 32108223.
- ^ Schroyens, Wilfried; O'Connell, Casey; Sykes, David B. (2012). "Complete and Partial Responses of the TEMPI Syndrome to Bortezomib" (PDF). N Engl J Med. 367 (8): 778–780. doi:10.1056/NEJMc1205806. PMID 22913703.
- ^ Sykes, David B.; Schroyens, W. (2018). "Complete Responses in the TEMPI Syndrome after Treatment with Daratumumab". N Engl J Med. 378 (23): 2240–2242. doi:10.1056/NEJMc1804415. PMID 29874534. S2CID 205064988.
- ^ Kenderian, S.S..; Rosado, F.G; Sykes, D.B.; Hoyer, J.D.; Lacy, M.Q. (2015). "Long-term complete clinical and hematological responses of the TEMPI syndrome after autologous stem cell transplantation". Leukemia. 29 (12): 2414–2416. doi:10.1038/leu.2015.298. PMID 26500143.
- ^ Bazari, Hasan; Attar, Eyal C.; Dahl, Douglas M.; Uppot, Raul N.; Colvin, Robert B. (2010). "Case Records of the Massachusetts General Hospital. Case 23-2010: A 49-Year-Old Man with Erythrocytosis, Perinephric Fluid Collections, and Renal Failure". N Engl J Med. 363 (5): 463–475. doi:10.1056/NEJMcpc1004086. PMID 20818867.